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Article

Absent pituitary gland in two brothers with an oral‐facial‐digital syndrome resembling OFDS II and VI: A new type of OFDS?

22 May 1995

Abstract excerpt

Duchenne and Becker muscular dystrophies (DMD and BMD) are caused by defects in the dystrophin gene. About two-thirds of the affected patients have large deletions or duplications, which occur in the 5' and central portion of the gene. The nondeletion/duplication cases are most likely the result of smaller mutations that cannot be identified by current diagnostic screening strategies. We screened approximately...

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PMID: 7611292
DOI: 10.1002/ajmg.1320570107

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Absent pituitary gland in two brothers with an oral‐facial‐digital syndrome resembling OFDS II and VI: A new type of OFDS?PMID 7611292Read ↗

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.Semantic proximity Read ↗

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Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene.Semantic proximity Read ↗

Novel small mutations along the DMD/BMD gene associated with different phenotypes.Semantic proximity Read ↗

Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients.Semantic proximity Read ↗

Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.Semantic proximity Read ↗

[Pathological variant of OFD1 gene identified in a pedigree affected with oral-facial-digital syndrome type 1].Semantic proximity Read ↗

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?Semantic proximity Read ↗

Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.Semantic proximity Read ↗

Identification of the gene for oral-facial-digital type I syndrome.Semantic proximity Read ↗

Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification.Semantic proximity Read ↗

Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.Semantic proximity Read ↗

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